ClinVar Miner

Variants with conflicting interpretations "pathogenic" from ClinGen Hearing Loss Variant Curation Expert Panel and "likely pathogenic" from any submitter

Minimum review status of the submission from ClinGen Hearing Loss Variant Curation Expert Panel: Collection method of the submission from ClinGen Hearing Loss Variant Curation Expert Panel:
Minimum review status of the other submission: Collection method of the other submission:
ClinVar version:
Total variants with conflicting interpretations: 6
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HGVS dbSNP gnomAD frequency
NM_206933.4(USH2A):c.2276G>T (p.Cys759Phe) rs80338902 0.00137
NM_000441.2(SLC26A4):c.919-2A>G rs111033313 0.00018
NM_206933.4(USH2A):c.956G>A (p.Cys319Tyr) rs121912599 0.00006
NM_206933.4(USH2A):c.1859G>T (p.Cys620Phe) rs758571672 0.00002
NM_000441.2(SLC26A4):c.1204G>A (p.Val402Met) rs397516414
NM_000441.2(SLC26A4):c.365dup (p.Ile124fs) rs786204730

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